List of variants reported as likely pathogenic for perceptual disorders by INSERM U1051, Institut des Neurosciences de Montpellier

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003322.6(TULP1):c.1063G>A (p.Asp355Asn)	rs1085307806	0.00002
NM_206933.4(USH2A):c.2330G>A (p.Cys777Tyr)	rs192119790	0.00002
NM_001029883.3(PCARE):c.2459_2460insA (p.Ser820fs)	rs1667491330
NM_001029883.3(PCARE):c.2822G>A (p.Trp941Ter)	rs1667480949
NM_001142800.2(EYS):c.113C>A (p.Ser38Ter)	rs1288767318
NM_001142800.2(EYS):c.8565_8568del (p.Asn2855fs)	rs1216993077
NM_001297.5(CNGB1):c.60del (p.Met21fs)	rs1962422577
NM_003322.6(TULP1):c.742_745del (p.Glu248fs)	rs1761147951
NM_006445.4(PRPF8):c.4477A>G (p.Thr1493Ala)	rs1479391155
NM_015629.4(PRPF31):c.821T>C (p.Ile274Thr)	rs2073875700
NM_201253.3(CRB1):c.1445_1453del (p.Ile482_Thr484del)	rs780580887
NM_201253.3(CRB1):c.1562C>T (p.Ala521Val)	rs1664306632
NM_206933.4(USH2A):c.487T>C (p.Cys163Arg)	rs2039619957
NM_206933.4(USH2A):c.6103T>G (p.Cys2035Gly)	rs2030621345

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.